A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499035



Internal ID276016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7853043..8060132hg38UCSC Ensembl
chr12:8005639..8212728hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38207090
hg19207090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054720
Samples
Known GenesC3AR1, FOXJ2, SLC2A14, SLC2A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499035
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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